rs267606655

plus

Geno	Mag	Summary
(CC;CC)	0	common in clinvar
(CC;GA)	5	Lowered risk (0.6x) of coronary artery disease

Make rs267606655(GA;GA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

62597616

Gene	ANGPTL3, DOCK7

is a	snp
is	mentioned by
dbSNP	rs267606655
dbSNP (classic)	rs267606655
ClinGen	rs267606655
ebi	rs267606655
HLI	rs267606655
Exac	rs267606655
Gnomad	rs267606655
Varsome	rs267606655
LitVar	rs267606655
Map	rs267606655
PheGenI	rs267606655
Biobank	rs267606655
1000 genomes	rs267606655
hgdp	rs267606655
ensembl	rs267606655
geneview	rs267606655
scholar	rs267606655
google	rs267606655
pharmgkb	rs267606655
gwascentral	rs267606655
openSNP	rs267606655
23andMe	rs267606655
SNPshot	rs267606655
SNPdbe	rs267606655
MSV3d	rs267606655
GWAS Ctlg	rs267606655

Max Magnitude

5

rs267606655, also known as c.50_51delCCinsGA and p.Ser17Ter, represents a rare loss of function variant in the ANGPTL3 gene on chromosome 1.

As a loss of function variant, the minor allele leads to lower amounts of ANGPTL3 protein, lowered triglycerides and LDL cholesterol, and according to several studies, a lowered risk (by about 40%) of developing coronary artery disease. These studies are discussed on the ANGPTL3 page.

ClinVar
Risk	rs267606655(GA;GA)
Alt	rs267606655(GA;GA)
Reference	Rs267606655(CC;CC)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	DOCK7 ANGPTL3
CLNDBN	Hypobetalipoproteinemia, familial, 2
Reversed	0
HGVS	NC_000001.10:g.63063287_63063288delCCinsGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005684.3,